17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
September 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
22 citations
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May 2007 in “Molecular Biotechnology” 65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
June 1994 in “Journal of the American Academy of Dermatology”
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
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July 1987 in “Dermatologic Clinics” June 2015 in “Reactions weekly” December 2012 in “Reactions weekly” March 2023 in “Reactions Weekly” January 2023 in “Reactions Weekly” January 2023 in “Reactions Weekly” January 2023 in “Reactions Weekly” March 2022 in “Reactions Weekly” January 2022 in “Springer eBooks” 1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
7 citations
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January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
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February 1998 in “The Journal of Steroid Biochemistry and Molecular Biology” PNU 157706 is a more effective treatment than finasteride for conditions caused by DHT, like enlarged prostate and hair loss.
2 citations
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May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
November 2016 in “대한피부과학회지” The document's conclusion cannot be summarized as it is not provided in a language I can understand.